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ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Disease Summary
Associated Targets (2)


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Mondo Description Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Uniprot Description An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate.
Disease Ontology Description An autosomal dominant disease characterized by autosomal dominant inheritance in tissues arising from the ectoderm including: ankyloblepharon filiforme adnatum and cleft lip and palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q27.
Mondo Term and Equivalent IDs
MONDO:0007124:  ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)